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EYA1

MIM.601653 8q13.3

Monday 9 May 2005

Pathology

- germline mutation in the EYA1 gene (MIM.601653) in

  • branchiootorenal syndrome (BOR syndrome) (MIM.113650)
  • ocular anterior segment anomalies
  • Peters anomaly
  • congenital cataract
  • nystagmus

References

- Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Levi-Acobas, F.; Cruaud, C.; Le Merrer, M.; Mathieu, M.; Konig, R.; Vigneron, J.; Weissenbach, J.; Petit, C.; Weil, D. : Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum. Molec. Genet. 6: 2247-2255, 1997. PubMed ID : #9361030#

- Abdelhak, S.; Kalatzis, V.; Heilig, R.; Compain, S.; Samson, D.; Vincent, C.; Weil, D.; Cruaud, C.; Sahly, I.; Leibovici, M.; Bitner-Glindzicz, M.; Francis, M.; Lacombe, D.; Vigneron, J.; Charachon, R.; Boven, K.; Bedbeder, P.; Van Regemorter, N.; Weissenbach, J.; Petit, C. : A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet. 15: 157-164, 1997. PubMed ID : #9020840#